Canonical Allele Identifier: CA1087498335

Gene: NEU1

Linked Data

• dbSNP Id: rs1762512704
• gnomAD v3: 6-31861508-C-A
• gnomAD v4: 6-31861508-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861508C>A , CM000668.2:g.31861508C>A	GRCh38
NC_000006.11:g.31829285C>A , CM000668.1:g.31829285C>A	GRCh37
NC_000006.10:g.31937264C>A	NCBI36
NG_008201.1:g.6425G>T
NG_023058.1:g.22539G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.353-58G>T MANE Select	ENSP00000364782.4:n.353-58G>T
ENST00000677054.1:n.972G>T
ENST00000677512.1:n.461-58G>T
ENST00000678869.1:n.461-58G>T
ENST00000375631.4:c.353-58G>T	ENSP00000364782.4:n.353-58G>T
ENST00000480384.1:n.382-58G>T
ENST00000491768.5:c.353-58G>T	ENSP00000433127.1:n.353-58G>T
ENST00000495807.1:n.863G>T
NM_000434.3:c.353-58G>T	NP_000425.1:n.353-58G>T
NM_000434.4:c.353-58G>T MANE Select	NP_000425.1:n.353-58G>T